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FLASH GENE
Symbol GRHL3 contributors: mct - updated : 29-04-2016
HGNC name grainyhead-like 3 (Drosophila)
HGNC id 25839
Corresponding disease
VWS3 van der Woude syndrome 3
Location 1p36.11      Physical location : 24.645.811 - 24.690.968
Synonym name
  • transcription factor CP2-like 4
  • sister of mammalian grainyhead
  • transcription factor hSOM1
  • Synonym symbol(s) MGC46624, SOM, TFCP2L4, GET1
    DNA
    TYPE functioning gene
    STRUCTURE 45.16 kb     16 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 2710 68 607 brain, pancreas, testis, placenta, prostate, colon, and kidney 2003 12549979
  • SOM1
  • containing an N-terminal activation domain, a central DNA-binding domain, and a C-terminal dimerization domain
  • 16 splicing 2879 67 602 brain, pancreas, placenta, kidney, tonsil, and thymus 2003 12549979
  • SOM2
  • containing an alternate in-frame first coding exon compared to SOM1
  • using a different start codon, compared to variant 1
  • - splicing 2528 57 509 brain, pancreas, and testis 2003 12549979
  • lacking an alternate in-frame segment, corresponding to the exon 2 which encodes a significant component of the transactivation domain of SOM1
  • 16 - 2232 - 626 - 2003 12549979
    16 - 2814 - 556 - 2003 12549979
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel     Homo sapiens
    Digestivemouth   highly
    Endocrineparathyroid   highly
    Respiratoryrespiratory tractlarynx  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY grainyhead family of transcription factors
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • may function as a transcription factor during development
  • regulates formation of the epidermal leading edge during eyelid closure
  • GRHL3 and LMO4 play coordinate roles in epidermal migration
  • may play important roles in mammalian development
  • cooperative roles of the GRHL genes in epidermal development
  • required for endothelial cell migration
  • nitric oxide dependent migration is completely dependent on GRHL3 expression, in breast cancer cells
  • IRF6 and GRHL3 are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS
  • is essential during epidermal development, is dispensable for adult skin homeostasis, but required for barrier repair after adult epidermal injury
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component homodimers and heterodimers with GRHL1 and GRHL2
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LMO4 serves as a functional partner of GRHL3
  • GRHL3/GET1 recruits the ubiquitously expressed Trithorax complex to a subset of differentiation genes
  • major role for GRHL3 in the induction of migration and invasion by the downregulation of CDH1 in cancer cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) VWS3
    Susceptibility to nonsyndromic cleft lip with/without cleft palate
    Variant & Polymorphism other dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    new therapeutic strategies with the aim to conserve GRHL3 expression in the vasculature
    ANIMAL & CELL MODELS
  • Grhl3-/- embryos have only oral epithelial adhesions because of the loss of periderm
  • mice lacking Grhl3 have an exacerbated epidermal damage response, greater sensitivity to disease induction, delayed resolution of epidermal lesions